Neurons are highly specialized for the processing and transmission of electrical signals and use cytoskeleton-based motor proteins to transport different vesicles and cellular materials. Abnormalities in intracellular transport are thought to be a critical factor in the degeneration and death of neurons in both the central and peripheral nervous systems. Several recent studies describe disruptive mutations in the minus-end-directed microtubule motor cytoplasmic dynein that are directly linked to human motor neuropathies, such as SMA (spinal muscular atrophy) and axonal CMT (Charcot–Marie–Tooth) disease or malformations of cortical development, including lissencephaly, pachygyria and polymicrogyria. In addition, genetic defects associated with these and other neurological disorders have been found in multifunctional adaptors that regulate dynein function, including the dynactin subunit p150Glued, BICD2 (Bicaudal D2), Lis-1 (lissencephaly 1) and NDE1 (nuclear distribution protein E). In the present paper we provide an overview of the disease-causing mutations in dynein motors and regulatory proteins that lead to a broad phenotypic spectrum extending from peripheral neuropathies to cerebral malformations.
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Conference Article|
November 20 2013
Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases
Joanna Lipka;
Joanna Lipka
*Division of Cell Biology, Department of Biology, Faculty of Science, Utrecht University, 3584 CH Utrecht, The Netherlands
†International Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland
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Marijn Kuijpers;
Marijn Kuijpers
*Division of Cell Biology, Department of Biology, Faculty of Science, Utrecht University, 3584 CH Utrecht, The Netherlands
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Jacek Jaworski;
Jacek Jaworski
†International Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland
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Casper C. Hoogenraad
Casper C. Hoogenraad
1
*Division of Cell Biology, Department of Biology, Faculty of Science, Utrecht University, 3584 CH Utrecht, The Netherlands
1To whom correspondence should be addressed (emailc.hoogenraad@uu.nl).
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Publisher: Portland Press Ltd
Received:
August 13 2013
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2013 Biochemical Society
2013
Biochem Soc Trans (2013) 41 (6): 1605–1612.
Article history
Received:
August 13 2013
Citation
Joanna Lipka, Marijn Kuijpers, Jacek Jaworski, Casper C. Hoogenraad; Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases. Biochem Soc Trans 1 December 2013; 41 (6): 1605–1612. doi: https://doi.org/10.1042/BST20130188
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